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2024-04-25 05:40:24, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001204212 2290 bp mRNA linear PRI 14-APR-2013
DEFINITION Homo sapiens transmembrane protein 235 (TMEM235), transcript
variant 3, mRNA.
ACCESSION NM_001204212
VERSION NM_001204212.1 GI:323635426
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 2290)
AUTHORS Maher,G.J., Hilton,E.N., Urquhart,J.E., Davidson,A.E.,
Spencer,H.L., Black,G.C. and Manson,F.D.
TITLE The cataract-associated protein TMEM114, and TMEM235, are
glycosylated transmembrane proteins that are distinct from claudin
family members
JOURNAL FEBS Lett. 585 (14), 2187-2192 (2011)
PUBMED 21689651
REMARK GeneRIF: Data demonstrate that TMEM114, and the closely related
TMEM235, are closely related to members of the voltage dependent
calcium channel gamma subunit family.
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
BC042066.1 and AC087645.19.
Transcript Variant: This variant (3) lacks two alternate in-frame
exons in the 5' coding region, compared to variant 1, resulting in
an isoform (3) that is shorter than isoform 1.
##Evidence-Data-START##
Transcript exon combination :: BC042066.1 [ECO:0000332]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-607 BC042066.1 1-607
608-608 AC087645.19 110118-110118 c
609-2157 BC042066.1 609-2157
2158-2158 AC087645.19 101252-101252 c
2159-2290 BC042066.1 2159-2290
FEATURES Location/Qualifiers
source 1..2290
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17q25.3"
gene 1..2290
/gene="TMEM235"
/gene_synonym="ARGM1"
/note="transmembrane protein 235"
/db_xref="GeneID:283999"
/db_xref="HGNC:27563"
exon 1..32
/gene="TMEM235"
/gene_synonym="ARGM1"
/inference="alignment:Splign:1.39.8"
exon 33..814
/gene="TMEM235"
/gene_synonym="ARGM1"
/inference="alignment:Splign:1.39.8"
variation 102
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="a"
/replace="t"
/db_xref="dbSNP:373457945"
variation 208
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:8068282"
STS 224..1834
/gene="TMEM235"
/gene_synonym="ARGM1"
/db_xref="UniSTS:488175"
misc_feature 277..279
/gene="TMEM235"
/gene_synonym="ARGM1"
/note="upstream in-frame stop codon"
variation 310
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:190468765"
variation 454
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:182291436"
variation 566
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:28758682"
variation 568
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:186093980"
variation 608
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="a"
/replace="t"
/db_xref="dbSNP:8068943"
CDS 625..1077
/gene="TMEM235"
/gene_synonym="ARGM1"
/note="isoform 3 precursor is encoded by transcript
variant 3; transmembrane protein ENSP00000364084"
/codon_start=1
/product="transmembrane protein 235 isoform 3 precursor"
/protein_id="NP_001191141.1"
/db_xref="GI:323635427"
/db_xref="CCDS:CCDS56048.1"
/db_xref="GeneID:283999"
/db_xref="HGNC:27563"
/translation="
MARLGALLLAAALGALLSFALLAAAVASDYWYILEVADAGNGSAWPGRAELLSSHSGLWRICEGVLTLAGVSIYISYSHLAFAETVQQYGPQHMQGVRVSFGWSMALAWGSCALEAFSGTLLLSAAWTLSLSPPICGHLSPQQVGGRGGD
"
sig_peptide 625..705
/gene="TMEM235"
/gene_synonym="ARGM1"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
misc_feature 706..>810
/gene="TMEM235"
/gene_synonym="ARGM1"
/note="PMP-22/EMP/MP20/Claudin family; Region:
PMP22_Claudin; cl15797"
/db_xref="CDD:210197"
misc_feature <814..966
/gene="TMEM235"
/gene_synonym="ARGM1"
/note="PMP-22/EMP/MP20/Claudin tight junction; Region:
Claudin_2; pfam13903"
/db_xref="CDD:206074"
exon 815..1064
/gene="TMEM235"
/gene_synonym="ARGM1"
/inference="alignment:Splign:1.39.8"
variation 857
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:373064807"
variation 858
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:375022647"
variation 872
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200061211"
variation 873
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:61742450"
variation 879
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:377630810"
variation 913
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200805574"
variation 927
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:61742094"
variation 957
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:370152360"
variation 973
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:370270314"
variation 978
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:373537642"
variation 1008
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:373500178"
variation 1027
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201651781"
variation 1040
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="a"
/replace="t"
/db_xref="dbSNP:56319950"
variation 1046
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201037898"
exon 1065..2272
/gene="TMEM235"
/gene_synonym="ARGM1"
/inference="alignment:Splign:1.39.8"
variation 1088
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370508383"
variation 1116
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:374568034"
variation 1159
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:367858964"
variation 1166
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:140627927"
variation 1192..1193
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace=""
/replace="g"
/db_xref="dbSNP:35192751"
variation 1218
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370495709"
variation 1389
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:142931529"
variation 1390
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147426172"
variation 1471
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:74880921"
variation 1485
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376042034"
variation 1540
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:117797315"
variation 1598
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:370651751"
variation 1662..1663
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace=""
/replace="c"
/db_xref="dbSNP:35326777"
variation 1681
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:7211670"
variation 1696
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:139709610"
variation 1727
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:111622843"
variation 1770
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:375124947"
variation 1857
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:368312826"
variation 1900
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:149927936"
variation 1951
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:74963848"
variation 1987
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace=""
/replace="g"
/db_xref="dbSNP:35317789"
variation 2099
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:182459585"
variation 2158
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:7211218"
variation 2267
/gene="TMEM235"
/gene_synonym="ARGM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:368970365"
ORIGIN
gtcctagaaggttctttctgcctgttttctccccccccgcccggctgtggggcccagccactgcacttcaccggatgccgtctggttggtcctcaggactgatacagaccaggaccccagggccagcccgtgccaggctcctatgcttccaggagcacgggtgggtggtcctgctgcctggccggccatcctcctggggtcggtctctggccgatcctccctcctcctctcaagccctgcacagcccggccaggcaggtgcatcttgtttggctgctgaggagccgggggttcagggaaattaaggaacgtgcccagggacccggggccagcccgtggggacgctgggattggagcccaagccccaggttcgccgcgcggctctcgacttcctctcctttcccccaggggcgagctcagcgaccgcagagaggtggggtcgatctccctgcgaccccagggggcccgcgaggccagtgcgcgggcaggagcggggacgtgctcagaagagccgggcgccgccgcgcccgcccgccccccgtcccccggctcccggctccgcgcgccccccgccgcccccggggccctgctacccccgacccgtcccctcccgccggccgcccccatggcccggctgggcgcgctgctcctggccgccgccctgggtgcactgctcagcttcgcgctcctggccgccgcggtcgccagcgactactggtacatcctggaggtggcggacgccggcaatggcagcgcctggcccgggcgcgcagagctgctctcctcgcactcggggctctggcgcatctgcgaaggtgtcctgacactggcgggggtcagcatctacatcagctactcgcacctggcctttgcggagacggtgcagcagtatggcccgcagcacatgcagggcgtccgcgtcagcttcggctggtccatggccctggcctggggctcctgtgccttggaggcattcagcggaaccctcctgctctcagctgcctggaccctcagcctgagccccccaatctgtggtcatctgagtccccagcaggtgggagggagagggggagactgaggcccagagcggcagagggacccacccagatcgcctggcgccagagagatgccgtctcaggccaaggcctccctggcctctgttctgtccactctccccgaagggcaggcttggtggagaagaggctgatgagagggcccgagagcccctccgatttgcaggggtggggggcaaggagctgagcgatccagatgtacccctctgccccctcccttgttctcaagcctgctaggtacttttcactgagcacttccgggaagagcaggcacccagatctctgtccttgtcctggcacaggctgctgctgcttccggcccccgacccttcctctctgcagcaacccgggggaggtatgccactgtgagtgccctggtgggcacactgagctggcagagatggaagtcccagaagggtggggtgggggtgtcatgccatggtggaggagtttggggccactccttgcctgcctcaaagggggcctggctgagggtgcttcttgaccacaggggccagggctgcctagggtggcgcagggctgggcctggagtttgggatgcaggcttgttaaacacagggcagaaccccaggttgggaggggctcagtttgcaggcccaggcccgcaggcccactgctggtcccagggtgagacaggtgagaagagggatggccagcacacacttgagtccccttgggccacaaaggctggggcacgcccaccgttatgcagatggacagttgaggtggctgcaggagaagggttcccagggcctgtacaacacgtggaagcactaaacggccccgtttggggtttgggggcccttcccgagtcttgagaggtcttgagaggtgtgctggggaaggtggcagcctcttgtagcttgatcttcctccaccctgccccacccctaggtctctttattgattcaaaggttaaggaagctcctgggggcttgagggggtggcacagttttggtggggcccagtgaggacaaatctggggggtgagcagggcctcctcttcctcctggtgtttgaacgtttaccattccatgtgggaccattgtgccaatttgtccttaagtaaatcacttgtgctgtgtgcagtataagccttttatttttcttagaacttttcaaaataggtaacacatgcctgtctgtcataaacagtacaaacgtgagcaaacactgtcaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:283999 -> Molecular function: GO:0005198 [structural molecule activity] evidence: IEA
GeneID:283999 -> Cellular component: GO:0005783 [endoplasmic reticulum] evidence: IEA
GeneID:283999 -> Cellular component: GO:0005923 [tight junction] evidence: IEA
GeneID:283999 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
GeneID:283999 -> Cellular component: GO:0016324 [apical plasma membrane] evidence: IEA
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